Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. - Wikidata - wikimedia - TriplyDB

Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.

Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.

http://www.wikidata.org/entity/Q45345530

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Structural basis for the heterodimeric interaction between the acute leukaemia-associated transcription factors AML1 and CBFbeta Src kinase phosphorylates RUNX3 at tyrosine residues and localizes the protein in the cytoplasm Transcriptional upregulation of DDR2 by ATF4 facilitates osteoblastic differentiation through p38 MAPK-mediated Runx2 activation Marshall syndrome associated with a splicing defect at the COL11A1 locus.The p38 MAPK pathway is essential for skeletogenesis and bone homeostasis in mice Random monoallelic expression of three genes clustered within 60 kb of mouse t complex genomic DNA Identification of the homeobox protein Prx1 (MHox, Prrx-1) as a regulator of osterix expression and mediator of tumor necrosis factor α action in osteoblast differentiation A RUNX2/PEBP2alpha A/CBFA1 mutation displaying impaired transactivation and Smad interaction in cleidocranial dysplasia Cell Fate and Differentiation of Bone Marrow Mesenchymal Stem Cells Nuclear receptors in bone physiology and diseases Novel biological markers of bone: from bone metabolism to bone physiology Regulation of the activity of the transcription factor Runx2 by two homeobox proteins, Msx2 and Dlx5 Mutations in the RUNX2 gene in patients with cleidocranial dysplasia Cbfa1/RUNX2 directs specific expression of the sclerosteosis gene (SOST)Transforming growth factor-beta stimulates p300-dependent RUNX3 acetylation, which inhibits ubiquitination-mediated degradation Advances in Skeletal Dysplasia Genetics Maturational disturbance of chondrocytes in Cbfa1-deficient mice The interferon-inducible p204 protein acts as a transcriptional coactivator of Cbfa1 and enhances osteoblast differentiation The high mobility group transcription factor Sox8 is a negative regulator of osteoblast differentiation Lymphoid enhancer factor-1 and beta-catenin inhibit Runx2-dependent transcriptional activation of the osteocalcin promoter Molecular origins of rapid and continuous morphological evolution Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I Identification of the regions involved in DNA binding by the mouse PEBP2alpha protein.Non-virus-mediated transfer of siRNAs against Runx2 and Smad4 inhibit heterotopic ossification in rats.Determining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational approach.Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles.Maternal and offspring pools of osteocalcin influence brain development and functions.Polyglutamine variation in a flowering time protein correlates with island age in a Hawaiian plant radiation A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails.Cleidocranial dysplasia: clinical and molecular genetics.Modeling stochastic gene expression: implications for haploinsufficiency.Transcription factors in dysmorphology.FGF2-activated ERK mitogen-activated protein kinase enhances Runx2 acetylation and stabilization.Monoallelic expression of Pax5: a paradigm for the haploinsufficiency of mammalian Pax genes?Cbfa1/Runx2-deficiency delays bone wound healing and locally delivered Cbfa1/Runx2 promotes bone repair in animal models.Deletion of Runx2 in Articular Chondrocytes Decelerates the Progression of DMM-Induced Osteoarthritis in Adult Mice.Cbfβ deletion in mice recapitulates cleidocranial dysplasia and reveals multiple functions of Cbfβ required for skeletal development.Two domains unique to osteoblast-specific transcription factor Osf2/Cbfa1 contribute to its transactivation function and its inability to heterodimerize with Cbfbeta Osterix/Sp7 limits cranial bone initiation sites and is required for formation of sutures.A novel small deletion mutation in RUNX2 gene in one Chinese family with cleidocranial dysplasia.

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Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.

http://www.wikidata.org/entity/Q45345530

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Missense mutations abolishing ...... A1 in cleidocranial dysplasia.

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Missense mutations abolishing ...... A1 in cleidocranial dysplasia.

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Missense mutations abolishing ...... A1 in cleidocranial dysplasia.

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Missense mutations abolishing ...... A1 in cleidocranial dysplasia.

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Nature Genetics

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Missense mutations abolishing ...... FA1 in cleidocranial dysplasia

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Baldini A

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Ducy P

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Hecht J

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Karsenty G

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Lee B

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Thirunavukkarasu K

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Zhou L

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P2860

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

AML1, AML2, and AML3, the human members of the runt domain gene-family: cDNA structure, expression, and chromosomal localization

Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development

Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily

The mouse short ear skeletal morphogenesis locus is associated with defects in a bone morphogenetic member of the TGF beta superfamily

Synpolydactyly in mice with a targeted deficiency in the HoxD complex

Two distinct osteoblast-specific cis-acting elements control expression of a mouse osteocalcin gene.

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307-310

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10.1038/NG0797-307

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3

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16

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Valérie Geoffroy

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